Aldridge and colleagues found the following distinct differences between facial characteristics of children with autism and those of typically developing children:

Children with autism have a broader upper face, including wider eyes.

Children with autism have a shorter middle region of the face, including the cheeks and nose.

Children with autism have a broader or wider mouth and philtrum -- the divot below the nose, above the top lip.

Molecular Autism 2011, 2:15 doi:10.1186/2040-2392-2-15

Facial phenotypes in subgroups of pre-pubertal boys with autism spectrum disorders are correlated with clinical phenotypes

Kristina Aldridge et al.

Abstract (provisional)BackgroundThe brain develops in concert and in coordination with the developing facial tissues, with each influencing the development of the other and sharing genetic signaling pathways. Autism spectrum disorders (ASDs) result from alterations in the embryological brain, suggesting that the development of the faces of children with ASD may result in subtle facial differences compared to typically developing children. In this study, we tested two hypotheses. First, we asked whether children with ASD display a subtle but distinct facial phenotype compared to typically developing children. Second, we sought to determine whether there are subgroups of facial phenotypes within the population of children with ASD that denote biologically discrete subgroups.

ResultsFirst, we found that there are significant differences in facial morphology in boys with ASD compared to typically developing boys. Second, we also found two subgroups of boys with ASD with facial morphology that differed from the majority of the boys with ASD and the typically developing boys. Furthermore, membership in each of these distinct subgroups was correlated with particular clinical and behavioral traits.

ConclusionsBoys with ASD display a facial phenotype distinct from that of typically developing boys, which may reflect alterations in the prenatal development of the brain. Subgroups of boys with ASD defined by distinct facial morphologies correlated with clinical and behavioral traits, suggesting potentially different etiologies and genetic differences compared to the larger group of boys with ASD. Further investigations into genes involved in neurodevelopment and craniofacial development of these subgroups will help to elucidate the causes and significance of these subtle facial differences.

9 comments:

The brain develops in concert and in coordination with the developing facial tissues, with each influencing the development of the other and sharing genetic signaling pathways. Autism spectrum disorders (ASDs) result from alterations in the embryological brain, suggesting that the development of the faces of children with ASD may result in subtle facial differences compared to typically developing children.

Boys with ASD display a facial phenotype distinct from that of typically developing boys, which may reflect alterations in the prenatal development of the brain.

Broader and shorter upper face - sounds like facial masculinzation to me, although of course that's usually also connected with a relatively larger (longer) lower facial jaw region (which is why the whole male face including the jaw is similar or slightly narrower to the female face).

I look like that - but then again, so does everyone on my father's side of the family.

More seriously, I think it would have been great had they tested the fathers, as well. I know several families with ASD where the fathers (or other siblings) only look slightly less than this stereotype. In other words, many of the inheritable bits are likely expressed outside before becoming clinically important.

My mother's 2 brothers look like this as well, and they are Asperger like, but undiagnosed ASD. In turn my maternal great-uncles also looked like this, and included an inventor, a brilliant mathematician and so on. So in my family these traits are inherited on the maternal line.

To me it looks like there is a combination of genes that give people enhanced language, math, art, and music ability - but once it is too much, it is decidedly too much.

Evolution put up with this because many low-level ASD people (while somewhat annoying) are relatively easy to deal with, can be successfully integrated, usually don't cause any problems, and yet may be exceptionally productive, at important times.

As many, at times I have contemplated whether some of this is an ancient / Neanderthal trait. ASD often presents itself as high intelligence without the expected attached high social skills...

this seems unusual - I thought this was largely on the male lineage. But perhaps I am wrong, because I personally know two families in which the mother seems to have been the larger contributor (based on physiology and general interaction).

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